The prevalence of minor physical anomalies in mentally retarded children

The prevalence of minor physical anomalies was examined in a sample of 109 children with idiopathic mental retardation (65 boys and 44 girls). Control group consisted of 246 healthy schoolchildren (123 boys and 123 girls) aged 8 to 12 years. A comparison was made between number of found minor anomalies per child (W1) and their Waldrop weight scores (W2) in healthy and mentally retarded (MR) children. The MR children were found to have a higher number of minor anomalies per child. In their group predominated those with four or more anomalies (56.9%), whereas among healthy children only 7.7% had four anomalies or more. In contrast to the high weighted score value (W2) of five or greater in 36.7% of MR children, it was absent in all control group subjects. There were highly significant differences between the MR and healthy children in the average value of the number of minor anomalies per child (W1) and in the average weighted score (W2). The average number of minor anomalies per child (W1) in MR and well children was 3.65 and 1.7, respectively. In MR children the average weighted score (W2) was 3.82, being 1.46 in healthy children. Our results suggest that common etiological factors, which had led to a physical and mental disorder, were active early in the development of MR children. The finding of high incidence of multiple minor anomalies in MR children indicates that genetic factors may play an important role in the etiology of the underlying disorder in the child group studied.     

Causal connection of non-specific low back pain and disc degeneration in children with transitional vertebra and/or Spina bifida occulta: role of magnetic resonance--prospective study

The problem of low back pain (LBP) in children is very common and many specialists are dealing with it in everyday practice. The cause for low back pain often is not found and classified under the diagnosis of non specific low back pain. The objective of this prospective study is to determine wether children with non specific low back pain and existence of anomalies in LS spine (transitional vertebra- TV and/or Spina bifida occulta SBO) also have the degeneration of the intervertebral disc (DD) L4-L5 and/or L5-S1. This prospective study included 69 patients from 8 to 16 years of age (X 12.81) of whom 40 were male (57.97%), and 29 female (42.03%). They all were examinated in University of Zagreb, "Sestre milosrdnice" University Hospital Center, Zagreb Children's Hospital, Department of Orthopaedic, Zagreb, Croatia. The reason of their visit was non specific low back pain. Pain was measured by visual analog scale (VAS) and mean score was three, duration of pain was between two and four weeks. Also, pain was sporadic, during daytime and not connected with level of physical activity. They all have undergone an algorithm of radiological examinations. Standard AP and LL radiographs (RTG) were made, as well as magnetic resonance (MR) of LS spine and sacrum in sagittal and transversal plane in T1 and T2 weighted sequence. The anomalies of L5 and S1 were found in 65 patients: transitional vertebra classified according to Castellvi et al. and SBO. In MRI in T2 weighted sequence DD was found in 61 patients which was classified modified from Pearce. Data analysis and comparison showed that 56patients with TV and/or SBO have changes on vertebral dynamic segment L5-S1 (VDS) and that means DD. In 13 patients only DD or spinal anomaly (TV and/or SBO) were found. Correlation between anomalies and DD in those patients was established by McNemar analysis and has shown significant difference (p=0.581) in favour of the patients with anomaly and DD. This has established that all of 56 patients with spinal anomaly could have DD as known cause of LBP.     

Considering specific clinical features as evidence of pathogenic copy number variants

Since the introduction of high-resolution microarray technologies, it has become apparent that structural chromosomal rearrangements can lead to a wide variety of clinical manifestations, including developmental delay/intellectual disability (DD/ID). It has been shown previously that the diagnostic yield of genome-wide array-based identification of submicroscopic alterations in patients with ID varies widely and depends on the patient selection criteria. More attempts have recently been made to define the phenotypic clues of pathogenic copy number variants (CNVs). The aim of this study was to investigate a well-phenotyped cohort of patients with DD/ID and determine whether certain clinical features may serve as indicators for pathogenic CNVs. A retrospective analysis was conducted for patients with DD/ID (n?=?211) who were tested using genome-wide chromosomal microarray technologies and a review of the clinical data was performed. Pathogenic CNVs were detected in 29 patients. In comparison with individuals who had normal molecular karyotyping results (n?=?182), malformations of the musculoskeletal system; congenital malformations of the CNS (particularly hydrocephalus and congenital malformations of the corpus callosum); minor anomalies of the eye, face, and neck subgroup (particularly downward-slanting palpebral fissures, minor anomalies of the ear, and micrognathia); brachydactyly; and umbilical hernia were more common in patients with chromosomal alterations. A multivariate logistic regression analysis allowed the identification of three independent pathogenic CNV predictors: congenital malformations of the corpus callosum, minor anomalies of the ear, and brachydactyly. Insights into the chromosomal phenotype may help to increase the diagnostic yield of microarray technologies and sharpen the distinction between chromosomal alterations and other conditions.     

Prevalence and Correlates of Elopement in a Nationally Representative Sample of Children with Developmental Disabilities in the United States

Despite increased awareness and concern about children with developmental disabilities wandering away from adult supervision, there is a paucity of research about elopement. This is the first study to examine and report the prevalence and correlates of elopement in a nationally representative sample of school-age children in the United States with an autism spectrum disorder (ASD) and/or cognitive impairment. Data were obtained from the CDC''s "Pathways" Survey, a follow-up telephone survey of the parents of 4,032 children with a developmental condition. 3,518 children that had ASD, intellectual disability (ID), and/or developmental delay (DD) at the time of survey administration were included for analysis. Children were divided into three condition groups: ASD-only; ID/DD-only; ASD+ID/DD. Logistic regression analyses were used to compare the prevalence of elopement and rates of preventive measure use (barriers and/or electronic devices) across condition groups, and to examine the clinical and demographic correlates of elopement. T-tests were also performed to compare scores on the Children''s Social Behavior Questionnaire (CSBQ) between wanderers and non-wanderers. Overall, 26.7% of children had reportedly eloped within the previous year, most commonly from public places. Children with ASD-only and ASD+ID/DD were more likely to have eloped than those with ID/DD-only. Across all groups, wanderers scored higher than non-wanderers on five out of six CSBQ subscales; they were more likely not to realize when there is danger, to have difficulty distinguishing between strangers and familiar people, to show sudden mood changes, to over-react to everything/everyone, to get angry quickly, to get lost easily, and to panic in new situations or if change occurs. Even after controlling for elopement history, parents of children in the ASD+ID/DD group were more likely than those in the other condition groups to report using physical or electronic measures to prevent wandering.     

Dental caries in disabled children

The aim of the study was to evaluate oral health conditions and dental caries status in disabled and healthy children. Two groups of randomly selected children 3-17 years old were examined. The first group comprised 80 children with disabilities (cerebral palsy, mental retardation, Down syndrome, autism and hearing-speaking disorders) and the second (control) group included 80 healthy children. Examined children were selected from several institutions which take care of disabled persons, kindergardens and four elementary schools. Clinical examination was performed by using a mirror and a probe and revealed the presence of dental caries, missing (extracted) and filled teeth. All clinically detected cavitations were registered as dental caries. The degree of oral hygiene was evaluated according to the OHI-S index values, which was determined by marking the plaque with 1% eozine solution. The values of OHI-S index ranged from 3.8-4.53 in disabled children and 2.73-2.84 in healthy children. In disabled children, the average dft values were 3.42 in deciduous teeth and 5.24 in mixed dentition. In healthy children, the average dft values were 1.43 in deciduous teeth and 5.1 in mixed dentition. The average DMFT index in disabled children was 1.41 for mixed and 6.39 for permanent dentitions. In healthy children, the average DMFT values were 1.23 in mixed and 4.76 in permanent dentitions. In general, the results revealed significantly poor level of oral hygiene and quite high level of caries prevalence in both disabled and healthy children, accentuating the need to reorganize preventive care measurements and improve dental care, particularly in disabled children in Croatia.     

Developmental threshold, day-degree requirements and voltinism of the aphid predator Episyrphus balteatus (Diptera: Syrphidae)

Episyrphus balteatus is the dominant syrphid predator of aphids in the UK, reestablishment of populations each season is mainly by migration from warmer climes, as overwintering in this country is minimal with an uncertain level of success. The effects of temperature on the developmental rate of E. balteatus were investigated to determine the potential voltinism of this species in the UK. Estimates of the developmental threshold temperature from oviposition to adult emergence varied between 6.0d?C and 7.1d?C with a day-degree (DD) requirement of between 256 and 280 depending on the method of analysis used. Using the DD requirement derived from a weighted linear regression (261 DD above a threshold of 6.8d?C) in combination with the required value from adult emergence to first oviposition, suggests a total requirement of approximately 374 DD above 6.8d?C per generation. These data, together with climate records, indicate that one to three generations are possible each year, depending on the available DD and origin of the population. The advantages and limitations of different approaches and models used to estimate developmental thresholds and DD requirements are discussed.     

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by limb reduction defects, characteristic facial features and impaired cognitive development. Mutations in the NIPBL gene predominate; however, mutations in other cohesin complex genes have also been implicated, particularly in atypical and mild CdLS cases. Missense mutations and whole gene deletions in RAD21 have been identified in children with growth retardation, minor skeletal anomalies and facial features that overlap findings in individuals with CdLS. We report the first intragenic deletion and frameshift mutations identified in RAD21 in two patients presenting with atypical CdLS. One patient had an in-frame deletion of exon 13, while the second patient had a c.592_593dup frameshift mutation. The first patient presented with developmental delay, hypospadias, inguinal hernia and dysmorphic features while, the second patient presented with developmental delay, characteristic facial features, hirsutism, and hand and feet anomalies, with the first patient being milder than the second. The in-frame deletion mutation was found to be inherited from the mother who had a history of melanoma and other unspecified medical problems.     

Pedometer-determined physical activity levels of healthy children and children with Down’s syndrome

Purpose: Children with Down’s syndrome (DS) are considered sedentary and less engaged in recommended physical activity (PA) levels. This study compared the PA levels between children with DS and healthy children in Saudi Arabia.

Methods: The study included 85 children divided into two groups. The DS group comprised 37 children with DS aged 8–12?years recruited from the Down Syndrome Charitable Association and Al-Nahda Schools for DS. The healthy group comprised 41 healthy children aged 8–12?years recruited from regular schools in the same region. PA levels were measured over 7?days using a pedometer.

Results: The healthy group was more active than the DS group (p?p?p?Conclusions: The DS group had a high body mass index and physical inactivity compared with the second group. Obesity and physical inactivity among Saudi Arabian children with and without DS are major health concerns. Therefore, concerted efforts are needed to combat childhood obesity, promote PA, improve patient quality of life, and reduce the sedentary lifestyle among Saudi children and adolescents.     

Does phenotypic plasticity confound attempts to identify hominin fossil species? An assessment using extant Old World monkey craniodental data

It has been hypothesised recently that masticatory strain-induced phenotypic plasticity complicates efforts to delineate species in the hominin fossil record. Here, we report a study that evaluated this hypothesis by subjecting craniodental data from 8 Old World monkey species to ANOVA and discriminant analysis. The study does not support the hypothesis. Characters associated with high masticatory strains were found to exhibit significantly higher levels of variability than low-to-moderately strained characters and dental characters, but the three sets of characters did not differ markedly in taxonomic utility. Moreover, the best discrimination was achieved when all variables were employed. These results suggest that phenotypic plasticity likely plays only a minor confounding role in hominin taxonomy, and that, rather than attempting to exclude phenotypically plastic characters, researchers should simply maximise the number of characters examined.     

Relationships between Categorical Perception of Phonemes,Phoneme Awareness,and Visual Attention Span in Developmental Dyslexia

We tested the hypothesis that the categorical perception deficit of speech sounds in developmental dyslexia is related to phoneme awareness skills, whereas a visual attention (VA) span deficit constitutes an independent deficit. Phoneme awareness tasks, VA span tasks and categorical perception tasks of phoneme identification and discrimination using a d/t voicing continuum were administered to 63 dyslexic children and 63 control children matched on chronological age. Results showed significant differences in categorical perception between the dyslexic and control children. Significant correlations were found between categorical perception skills, phoneme awareness and reading. Although VA span correlated with reading, no significant correlations were found between either categorical perception or phoneme awareness and VA span. Mediation analyses performed on the whole dyslexic sample suggested that the effect of categorical perception on reading might be mediated by phoneme awareness. This relationship was independent of the participants’ VA span abilities. Two groups of dyslexic children with a single phoneme awareness or a single VA span deficit were then identified. The phonologically impaired group showed lower categorical perception skills than the control group but categorical perception was similar in the VA span impaired dyslexic and control children. The overall findings suggest that the link between categorical perception, phoneme awareness and reading is independent from VA span skills. These findings provide new insights on the heterogeneity of developmental dyslexia. They suggest that phonological processes and VA span independently affect reading acquisition.     

Contribution of physical fitness component to health status in middle-aged and elderly males

This study determined the physical fitness component that contributes to improving and maintaining health status for each age group as well as quantifying the degree of the relationship between health status and physical fitness in middle-aged and elderly males. The participants were 995 males aged 30 to 69 years. Ten physical fitness tests and medical checkups were performed. The participants were divided into a healthy group and an unhealthy group according to health status. Multiple discriminant analysis was applied to the multivariate data. Correct discriminant probabilities of the multiple discriminant function to discriminate the healthy and unhealthy groups for males ranged from 67.0% to 75.1%. These findings suggest that there is a relatively high relationship between the health status and physical fitness level for middle-aged and elderly males. With each individual's discriminant score calculated using the multiple discriminant function as the index of the degree of health, the Pearson's correlation coefficient of the discriminant score and the performance in each physical fitness test were calculated. The age change between 30 and 69 years old was classified into five patterns according to the contribution. The result of this study is considered to be useful as objective data to prepare an exercise program considering the contribution of the physical fitness component of health status.     

The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation

Smith-Lemli-Opitz syndrome(SLOS) is a hereditary disorder of cholesterol biosynthesis. It is characterized by growth deficiency, mental retardation and multiple congenital anomalies, including a typical facial appearance, cleft palate, syndactyly, and a variety of central nervous system and/or major congenital malformations. There are very few reports of the Smith-Lemli-Opitz syndrome in Korean children. Here, we report on a girl with a G303R/R352W mutation. The patient was extremely irritable; assessment of the severity of the irritability included severity scoring and the amount of sleep. Cholesterol supplementation was started with egg yolks, and the irritability improved.     

Impairments of Biological Motion Perception in Congenital Prosopagnosia

Prosopagnosia is a deficit in recognizing people from their faces. Acquired prosopagnosia results after brain damage, developmental or congenital prosopagnosia (CP) is not caused by brain lesion, but has presumably been present from early childhood onwards. Since other sensory, perceptual, and cognitive abilities are largely spared, CP is considered to be a stimulus-specific deficit, limited to face processing. Given that recent behavioral and imaging studies indicate a close relationship of face and biological-motion perception in healthy adults, we hypothesized that biological motion processing should be impaired in CP. Five individuals with CP and ten matched healthy controls were tested with diverse biological-motion stimuli and tasks. Four of the CP individuals showed severe deficits in biological-motion processing, while one performed within the lower range of the controls. A discriminant analysis classified all participants correctly with a very high probability for each participant. These findings demonstrate that in CP, impaired perception of faces can be accompanied by impaired biological-motion perception. We discuss implications for dedicated and shared mechanisms involved in the perception of faces and biological motion.     

Analysis of the Role of Topography in the Spatial Differentiation of Landscapes Using Geoinformation and Statistical Methods

This article considers the patterns of correlations between the topography and spatial organization of the landscapes of two hierarchic levels (stows and groups of stows). A number of basic topographic parameters that are most significant for landscapes are obtained according to the digital elevation model of the basin of a minor river using geoinformation methods. The correlations are revealed using discriminant analysis. The greatest contribution to the discrimination of landscape units is made by the elevation. The directional slope is more significant for the discrimination of stows, while the standard deviation of slope is more significant for the discrimination of groups of stows. The latter parameter in combination with the profile curvature, as well as the wetness index, are significant for extracting valley geosystems. The same method was used to analyze the air temperature during the vegetation period as a factor that differentiates the conditions of the location of landscape units. The valley geosystems are grouped as colder ones, while the pyrogenic site is grouped as that with the highest amplitude of temperatures.     

Density dependence of forced expiratory flows in healthy infants and toddlers.

In older children and adults, density dependence (DD) of forced expiratory flow is present over the majority of the full flow-volume curve. In healthy subjects, DD occurs because the pressure drop from peripheral to central airways is primarily dependent on turbulence and convective acceleration rather than laminar resistance; however, an increase in peripheral resistance reduces DD. We measured DD of forced expiratory flow in 22 healthy infants to evaluate whether infants have low DD. Full forced expiratory maneuvers were obtained while the subjects breathed room air and then a mixture of 80% helium-20% oxygen. Flows at 50 and 75% of expired forced vital capacity (FVC) were measured, and the ratio of helium-oxygen to air flow was calculated (DD at 50 and 75% FVC). The mean (range) of DD at 50 and 75% FVC was 1.37 (1.22-1.54) and 1.23 (1.02-1.65), respectively, values similar to those reported in older children and adults. There were no significant relationships between DD and age. Our results suggest that infants, compared with older children and adults, have similar DD, a finding that suggests that infants do not have a greater ratio of peripheral-to-central airway resistance.     

Diagnostics of septicaemia in childhood by coagulation parameters

The diagnostic importance of coagulation parameters was tested in 438 children with septicaemia by discriminant analysis. The values of 756 patients with other diseases had been analysed for comparison. After the selection of the parameters by multivariate analyses discriminant functions were calculated for different subgroups. The best discriminant functions were found for septic newborns up to the age of 3 days. Their use may be helpful for diagnostics in practice. A more weak discrimination power was evident in newborns beyond the 3rd day of life. A simultaneous comparison of 7 subgroups of newborns with different illnesses by 3 discriminant functions led to lower sensitivity rate and don't suit for practice. Beyond the postnatal period the diagnostic importance of coagulation parameters for septicemia is even lower. The low reparation capacity of thrombopoiesis in neonates may be a cause for the good discriminant functions for septicaemia. The reason for the better discrimination in the newborns up to the 3rd day could be the more profound defects in the coagulation system.     

Dental health and dental care in children with cerebral palsy

The aim of this study was to determine a difference between children with cerebral palsy (CP) and healthy children, regarding health condition of teeth and oral tissuses. Disfunction of masticatory system, in children with CP, causes many problems with mastication. Nonfunctional mastication is related with the consumption of mushy food and decreased selfcleaning of occlusal and aproximal surfaces. All that leads to higher incidence of dental caries. Comparing the DMTF/dft (decayed, missing, filled tooth) index, it is evident that there is no statistically significant difference in a tooth morbidity between the group of healthy children and group of children with CP. The healthy children have statistically significant more teeth with fillings with respect to children with CP. Extractions are more common in children with CP. There is no statistically significant difference between those two groups regarding decayed teeth, one of components of DMFT index. Decayed components are more common than the extractions and fillings in both groups, which shows the insufficient curative care for all children in both groups. It can be concluded that there is a certain need of early beginning and a better organization of the preventive pediatric and dental care, in order to decrease the appearence of dental decay and increase the level of dental health, in this challenged population.     

Association between ENAM polymorphisms and dental caries in children

AimDental enamel, the most rigid biological tissue of the tooth known to mankind, is the most integral and fundamental part of the tooth. Enamel matrixes compile 5% of Enamelin peptides and at the time of tooth development, they are considered to effect the formation and elongation of enamel crystallites. ENAM plays critical role in enamel formation. Any changes in ENAM may affect the thickness of enamel and may lead to dental caries. The present study is aimed to evaluate the association of ENAM gene polymorphisms and susceptibility of dental caries development risk.Material and methodsThe present study was carried out on 168 South Indian children, children’s with dental caries were included in study. Written consent was taken from their parents/guardians. Additionally 193 healthy individuals were enrolled as controls. Sampling was done after dental examination of the individuals. Three ENAM gene single nucleotide polymorphisms (SNPs) were rs7671281, rs3796704 and rs12640848 was genotyped to check their role in susceptibility of dental caries development risk.ResultsOut of three SNPs rs7671281 showed statistically significant risk association with dental caries susceptibility in this ethnic population at heterozygous allele CT (OR: 1.939, p = .01865) and with minor allele T (OR: 1.451, p = .001292). SNP rs3796704 showed significant protective association with dental caries in Indian population at heterozygous allele GA (OR: 0.409, p = .0192) and with minor allele A (OR: 0.645, p = .00875). SNP rs12640848 showed significant protective association with dental caries in Indian population at heterozygous allele AG (OR: 3.041, p = .00642) and with minor allele G (OR: 1.478, p = .02184). Preliminary insilico analysis also showed that rs7671281 (Ile648Thr) amino acid change will cause the structural and functional changes in ENAM protein.ConclusionsIn the present study significant association was observed between ENAM gene SNP rs7671281 and dental caries susceptibility in South Indian children. These results suggested that ENAM gene variants may contribute to dental caries in children.     

Contribution of physical fitness component to health status in middle-aged and elderly females

This study determined the physical fitness component that contributes to improving and maintaining health status for each age group as well as quantifying the degree of the relationship between health status and physical fitness in middle-aged and elderly females. The participants were 2,371 females aged 30 to 69 years. Ten physical fitness tests and medical checkups were performed. The participants were divided into a healthy group and an unhealthy group according to health status. Multiple discriminant analysis was applied to the multivariate data. Correct discriminant probabilities of the multiple discriminant function to discriminate the healthy and unhealthy groups for females ranged from 63.0% to 77.5%. These results suggest that there is a relatively high relationship between health status and physical fitness level for middle-aged and elderly females. With each individual's discriminant score calculated by the obtained multiple discriminant function as the index of the degree of health, the Pearson's correlation coefficient of the discriminant score and the performance in each physical fitness test were calculated. The aging change from 30 to 69 years old was classified into four patterns according to the contribution. The result of this study is considered to be useful as objective data to prepare an exercise program considering the contribution of the physical fitness component of health status.     

Pathology of the mandibles and maxillae from archaeological context: discrepancy between diagnoses obtained by external inspection and radiological analysis

The goal of this research was to investigate the type and frequency of mandibular and maxillary lesions that could not be diagnosed relying solely on external macroscopic observation. The sample comprised of 189 maxillae and 182 mandibles from a late-medieval graveyard. The material was examined both macroscopically and radiologically, using traditional X-ray facilities, orthopantomographs, and a dental X-ray unit. The total number of lesions detected by radiography was 103, with the majority of them (90.3%) showing no external macroscopic features. The most frequently detected diseases were periodontal inflammatory lesions (64.1%), followed by developmental anomalies of the teeth (22.3%). The results of this study revealed that radiography allowed the detection of many underlying pathological lesions of the jaws that otherwise were not detected through external macroscopic examination.